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Quoted phrase not found in phrase index: "Congenital disorder of glycosylation with defective fucosylation 2"
Page 1
A case with congenital disorder of glycosylation with defective fucosylation 2 and new mutation in FUK gene.
Brain Dev. 2022 Mar;44(3):239-243. doi: 10.1016/j.braindev.2021.11.001. Epub 2021 Nov 18.
Brain Dev. 2022.
PMID: 34802815
INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of rare, hereditary, multisystem disorders, predominantly affecting nervous system. There are N- and O- types of glycosylation. Fucosylation, a form of N-glyco …
INTRODUCTION: Congenital disorders of glycosylation (CDG) is a group of rare, hereditary, multisystem disorde …
Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation.
Beimdiek J, Hennig R, Burock R, Puk O, Biskup S, Rapp E, Lesinski-Schiedat A, Buettner FFR, Das AM.
Beimdiek J, et al.
Glycobiology. 2022 Apr 21;32(5):380-390. doi: 10.1093/glycob/cwac003.
Glycobiology. 2022.
PMID: 35137040
Rare genetic mutations of the mannosyl-oligosaccharide glucosidase (MOGS) gene affecting the function of the mannosyl-oligosaccharide glucosidase (glucosidase I) are the cause of the congenital disorder of glycosylation IIb (CDG-IIb). Glucosidase I spe …
Rare genetic mutations of the mannosyl-oligosaccharide glucosidase (MOGS) gene affecting the function of the mannosyl-oligosaccharide glucos …
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Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II.
Guillard M, Morava E, van Delft FL, Hague R, Körner C, Adamowicz M, Wevers RA, Lefeber DJ.
Guillard M, et al.
Clin Chem. 2011 Apr;57(4):593-602. doi: 10.1373/clinchem.2010.153635. Epub 2011 Jan 27.
Clin Chem. 2011.
PMID: 21273509
BACKGROUND: Determination of the genetic defect in patients with a congenital disorder of glycosylation (CDG) is challenging because of the wide clinical presentation, the large number of gene products involved, and the occurrence of secondary c …
BACKGROUND: Determination of the genetic defect in patients with a congenital disorder of glycosylation ( …
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